View clinical trials related to BRCA1 Mutation.
Filter by:The aim of this study is to determine general practitionners' role in management of women with BRCA1/2 mutation. This study will be conduct between April 2017 and December 2017 at Montpellier University Hospital on women followed-up in the department of genetics and their general practitionners (GP). Patients and their GP will be called by the investigators and questionnaire will be given to them. Questionnaire includes questions for patients and their GP. The primary endpoint was to determine the rate of GP having sufficient knowledge of the adequate management of patients with BRCA1 / 2 mutation. Adequate knowledge includes : systematic search for a family history of cancer, knowing criteria required to refer women in oncogenetic department, and the ability to respond to patients' questions. Secondary endpoint was to determine women' opinion on their GP : whether or not well managed for their BRCA 1 / 2 mutation.
Insulin-like growth factor I (IGF-I) and other markers of insulin resistance (IRm) might modulate the penetrance of BRCA genes mutation. The investigators have designed a demonstration project with BRCA mutation carriers (with or without a previous diagnosis of breast cancer) to test: 1. whether a lifestyle intervention significantly reduceIGF-I and the other IRm (randomized trial). 2. whether mutation carriers with a previous diagnosis of breast cancer have higher IRm than carriers without breast cancer (case-controlstudy). 3. whether IRm and their change over time affect subsequent breast cancer incidence and prognosis (cohort follow-up). The investigators expect to significantly reduce IGF-I and IRm, to find that BRCA mutation carriers with a previous breast cancer have higher IRm levels, and, in the long term, that women with persistent higher IRm levels have higher penetrance and worst prognosis. Confirming a significant reduction of IRm and the impact of their levels on prognosis would help to develop primary prevention recommendations for high risk families.
This study evaluates the ability of the MAKO 7 device to collect various cells
The primary goal of this research is to develop and test a web-based genetic education/counseling intervention. This intervention is designed to educate men from hereditary cancer families about the personal relevance of genetic testing in order to help them make decisions about whether to pursue genetic testing. The investigators will test this intervention against standard care for men from hereditary cancer families. The web-based educational intervention includes all of the information typically covered during genetic counseling. As a result, after completing the education intervention participants can proceed directly to genetic testing if they choose. The investigators will conduct a survey prior to randomization and then follow-up surveys at 1-month and 6-months post-randomization. The primary outcome will be uptake of genetic testing. Secondary outcomes will be completion of genetic counseling and decision satisfaction.
Among women with a BRCA1 mutation and breast cancer, choice of chemotherapy is a critical issue. There are emerging data which suggest that mutation carriers may respond differently than non-carriers to particular agents. BRCA1-associated cancers differ from non-hereditary cancers for a range of pathologic and molecular factors, including tumor grade and histologic appearance. Several studies have shown that the response to treatment for women with a BRCA1-associated breast cancer reflects the underlying tumor biology, in particular, the impairment of the DNA damage response and repair pathways, and that it is possible to exploit the sensitivity of BRCA1-associated cancers to DNA damage. It is equally important that the investigators evaluate the benefit of cisplatin in women with disseminated breast cancer, including those who have previously been treated with one or more chemotherapy regimens. This study is undertaken to evaluate the efficacy of cisplatin chemotherapy in BRCA1 carriers with metastatic breast cancer. The primary objective is to determine the objective response rate of cisplatin in BRCA1 carriers with metastatic breast cancer. The secondary objectives are to determine 3-year survival and to evaluate the toxicities of cisplatin in BRCA1 carriers with metastatic breast cancer.
Each year, the number of breast cancer survivors who choose post-mastectomy breast reconstruction keeps rising. Among women who elect to pursue breast reconstruction, approximately 75% will choose prosthetic breast reconstruction. Implant-based breast reconstruction is frequently achieved in two-stages. The first stage consists of the placement of a tissue expander after mastectomy. This is followed by a period of biweekly tissue expansions that can last several months. In the second stage, the tissue expander is removed in a surgical procedure and replaced with a permanent breast implant. Tissue expansion is a well-established breast reconstruction technique characterized by high success rates and high patient satisfaction. Despite the well-recognized advantages of this successful breast reconstruction technique, the subpectoral placement of a tissue expander is associated with significant pain and discomfort in the immediate post-operative period and during the phase of tissue expansion. Pectoralis major muscle spasm is a frequently reported problem during tissue expansion. Legeby et al. recently showed that women who underwent prosthetic breast reconstruction had higher pain scores and took more analgesics that those who did not choose post-mastectomy reconstruction. In the past 10 years, publications on the use of botulinum toxin A (BTX-A) for pain relief in a wide array of clinical conditions have increased tremendously. BTX-A is one of the neurotoxins produced by Clostridium botulinum bacteria. By reversibly inhibiting neurotransmitter release, BTX-A has both analgesic and paralytic properties. The analgesic action of BTX-A was initially thought to be related to its effects on muscular contraction. However, a recent in vitro study of embryonic rat dorsal neurons did confirm that BTX-A inhibits release of substance P, a neurotransmitter associated with pain and inflammatory reactions. The presence of analgesic properties of BTX-A is increasingly supported by several clinical observations: pain relief with BTX-A injections has been reported for migraine headaches, chronic pelvic, chronic tennis elbow, and post-operative pain control for lower limb lengthening correction, among others. This aspect has never been studied in breast cancer survivors who elect to pursue breast reconstruction with tissue expanders. Furthermore, physical function outcomes are important to consider with BTX-A use because the link between temporary muscle paralysis and improvements in participation in daily activities is not a given. The investigators propose to complete a double-blinded prospective randomized controlled trial of women undergoing unilateral and bilateral mastectomies with immediate placement of tissue expanders, to establish the efficacy and safety of BTX-A in alleviating pain and in improving physical well-being during the expansion period.